Severe early onset ethylmalonic encephalopathy with West syndrome

Laura Papetti, Giacomo Garone, Livia Schettini, Carla Giordano, Francesco Nicita, Paola Papoff, Massimo Zeviani, Vincenzo Leuzzi, Alberto Spalice

Research output: Contribution to journalArticle

Abstract

Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder characterized by early onset encephalopathy, chronic diarrhoea, petechiae, orthostatic acrocyanosis and defective cytochrome c oxidase (COX) in muscle and brain. High levels of lactic, ethylmalonic and methylsuccinic acids are detected in body fluids. EE is caused by mutations in ETHE1 gene, a mitochondrial sulfur dioxygenase. Neurologic signs and symptoms include progressively delayed development, hypotonia, seizures, and abnormal movements. We report on the clinical, electroencephalographic and MRI findings of a baby with a severe early onset encephalopathy associated with novel ETHE1 gene mutation. This is the first case described in literature with an early pure epileptic onset, presenting with West syndrome.

Original languageEnglish
Pages (from-to)1537-1545
Number of pages9
JournalMetabolic Brain Disease
Volume30
Issue number6
DOIs
Publication statusPublished - Dec 1 2015

Fingerprint

Infantile Spasms
Genes
Chronic Brain Damage
Mutation
Muscle Hypotonia
Purpura
Mitochondrial Genes
Body fluids
Dyskinesias
Brain Diseases
Body Fluids
Electron Transport Complex IV
Neurologic Manifestations
Magnetic resonance imaging
Muscle
Diarrhea
Lactic Acid
Brain
Seizures
Muscles

Keywords

  • ETHE1
  • Ethylmalonic encephalopathy
  • West syndrome

ASJC Scopus subject areas

  • Clinical Neurology
  • Biochemistry
  • Cellular and Molecular Neuroscience

Cite this

Papetti, L., Garone, G., Schettini, L., Giordano, C., Nicita, F., Papoff, P., ... Spalice, A. (2015). Severe early onset ethylmalonic encephalopathy with West syndrome. Metabolic Brain Disease, 30(6), 1537-1545. https://doi.org/10.1007/s11011-015-9707-8

Severe early onset ethylmalonic encephalopathy with West syndrome. / Papetti, Laura; Garone, Giacomo; Schettini, Livia; Giordano, Carla; Nicita, Francesco; Papoff, Paola; Zeviani, Massimo; Leuzzi, Vincenzo; Spalice, Alberto.

In: Metabolic Brain Disease, Vol. 30, No. 6, 01.12.2015, p. 1537-1545.

Research output: Contribution to journalArticle

Papetti, L, Garone, G, Schettini, L, Giordano, C, Nicita, F, Papoff, P, Zeviani, M, Leuzzi, V & Spalice, A 2015, 'Severe early onset ethylmalonic encephalopathy with West syndrome', Metabolic Brain Disease, vol. 30, no. 6, pp. 1537-1545. https://doi.org/10.1007/s11011-015-9707-8
Papetti L, Garone G, Schettini L, Giordano C, Nicita F, Papoff P et al. Severe early onset ethylmalonic encephalopathy with West syndrome. Metabolic Brain Disease. 2015 Dec 1;30(6):1537-1545. https://doi.org/10.1007/s11011-015-9707-8
Papetti, Laura ; Garone, Giacomo ; Schettini, Livia ; Giordano, Carla ; Nicita, Francesco ; Papoff, Paola ; Zeviani, Massimo ; Leuzzi, Vincenzo ; Spalice, Alberto. / Severe early onset ethylmalonic encephalopathy with West syndrome. In: Metabolic Brain Disease. 2015 ; Vol. 30, No. 6. pp. 1537-1545.
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